Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet

F. A. Wijburg; P. G. Barth; L. A. Bindoff; M. A. Birch-Machin; J. F. van der Blij; W. Ruitenbeek; D. M. TURNBULL; R. B. Schutgens

doi:https://doi.org/10.1055/s-2008-1071331

Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet

F. A. Wijburg, P. G. Barth, L. A. Bindoff, M. A. Birch-Machin, J. F. van der Blij, W. Ruitenbeek, D. M. TURNBULL, R. B. Schutgens

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Abstract

A one-year-old boy suffering from intermittent lactic acidosis, muscular hypotonia, horizontal gaze paralysis and spasticity in both legs had low activity of the pyruvate dehydrogenase complex associated with low amounts of immunoreactive E 1 alpha and E 1 beta. Leigh syndrome was diagnosed on the basis of the clinical and biochemical abnormalities and the typical lesions observed on MRI of the brain. Treatment with a ketogenic diet was associated with clinical and biochemical amelioration. A striking improvement of the cerebral lesions was observed by neuro-imaging

Original language	English
Pages (from-to)	147-152
Journal	Neuropediatrics
Volume	23
Issue number	3
DOIs	https://doi.org/10.1055/s-2008-1071331
Publication status	Published - 1992

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https://doi.org/10.1055/s-2008-1071331

Cite this

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title = "Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet",

abstract = "A one-year-old boy suffering from intermittent lactic acidosis, muscular hypotonia, horizontal gaze paralysis and spasticity in both legs had low activity of the pyruvate dehydrogenase complex associated with low amounts of immunoreactive E 1 alpha and E 1 beta. Leigh syndrome was diagnosed on the basis of the clinical and biochemical abnormalities and the typical lesions observed on MRI of the brain. Treatment with a ketogenic diet was associated with clinical and biochemical amelioration. A striking improvement of the cerebral lesions was observed by neuro-imaging",

author = "Wijburg, {F. A.} and Barth, {P. G.} and Bindoff, {L. A.} and Birch-Machin, {M. A.} and {van der Blij}, {J. F.} and W. Ruitenbeek and TURNBULL, {D. M.} and Schutgens, {R. B.}",

year = "1992",

doi = "https://doi.org/10.1055/s-2008-1071331",

language = "English",

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pages = "147--152",

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T1 - Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet

AU - Wijburg, F. A.

AU - Barth, P. G.

AU - Bindoff, L. A.

AU - Birch-Machin, M. A.

AU - van der Blij, J. F.

AU - Ruitenbeek, W.

AU - TURNBULL, D. M.

AU - Schutgens, R. B.

PY - 1992

Y1 - 1992

N2 - A one-year-old boy suffering from intermittent lactic acidosis, muscular hypotonia, horizontal gaze paralysis and spasticity in both legs had low activity of the pyruvate dehydrogenase complex associated with low amounts of immunoreactive E 1 alpha and E 1 beta. Leigh syndrome was diagnosed on the basis of the clinical and biochemical abnormalities and the typical lesions observed on MRI of the brain. Treatment with a ketogenic diet was associated with clinical and biochemical amelioration. A striking improvement of the cerebral lesions was observed by neuro-imaging

AB - A one-year-old boy suffering from intermittent lactic acidosis, muscular hypotonia, horizontal gaze paralysis and spasticity in both legs had low activity of the pyruvate dehydrogenase complex associated with low amounts of immunoreactive E 1 alpha and E 1 beta. Leigh syndrome was diagnosed on the basis of the clinical and biochemical abnormalities and the typical lesions observed on MRI of the brain. Treatment with a ketogenic diet was associated with clinical and biochemical amelioration. A striking improvement of the cerebral lesions was observed by neuro-imaging

U2 - https://doi.org/10.1055/s-2008-1071331

DO - https://doi.org/10.1055/s-2008-1071331

M3 - Article

C2 - 1641082

SN - 0174-304X

VL - 23

SP - 147

EP - 152

JO - Neuropediatrics

JF - Neuropediatrics

IS - 3

ER -